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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
ACAP3, ACOT7
+806 more
Copy number loss
See cases
GPathogenic
LINC02783, LINC03126
+804 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+500 more
Copy number loss
See cases
GPathogenic
LOC129929435, LOC129929436
+505 more
Copy number loss
See cases
GPathogenic
PLOD1, PRAMEF1
+730 more
Copy number loss
See cases
GPathogenic
LOC129929327, LOC129929328
+557 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+563 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+387 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+386 more
Copy number loss
See cases
GPathogenic
AGTRAP, ANGPTL7
+309 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+462 more
Copy number loss
See cases
GPathogenic
AADACL4, AGTRAP
+280 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+370 more
Copy number loss
See cases
GPathogenic
LOC110120623, LOC110120648
+361 more
Duplication
not specified
GLikely pathogenic
CENPS, CENPS-CORT
+30 more
Copy number loss
See cases
GLikely pathogenic
AADACL3, AADACL4
+304 more
Copy number loss
See cases
GPathogenic
C1orf127, CASZ1
+48 more
Copy number gain
See cases
GUncertain significance
CENPS, CENPS-CORT
(E4A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPS, CENPS-CORT
+1 more
(E9K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPS, CENPS-CORT
(E39G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPS, CENPS-CORT
(A48V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPS, CENPS-CORT
(F61L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPS, CENPS-CORT
(A51V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPS, CENPS-CORT
(D60E +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DNAJC11, DRAXIN
+76 more
Deletion
not provided
GUncertain significance
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
AADACL3, AADACL4
+80 more
Copy number loss
not specified
GPathogenic
CENPS, CENPS-CORT
+3 more
Copy number loss
not specified
GUncertain significance
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
AGTRAP, ANGPTL7
+44 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
ANGPTL7, C1orf127
+20 more
Deletion
Immunodeficiency 14
GUncertain significance
AADACL3, AADACL4
+143 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+159 more
Copy number loss
not provided
GPathogenic
CENPS, CENPS-CORT
+5 more
Deletion
Charcot-Marie-Tooth disease type 2
GUncertain significance
AJAP1, KAZN
+228 more
Copy number loss
not provided
GPathogenic
CENPS, CENPS-CORT
+12 more
Deletion
Immunodeficiency 14
GUncertain significance
TARDBP, RBP7
+31 more
Copy number loss
not provided
GLikely pathogenic
AADACL3, AADACL4
+38 more
Copy number loss
not provided
GUncertain significance
ACAP3, ACOT7
+148 more
Copy number loss
See cases
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+97 more
Copy number loss
See cases
GLikely pathogenic
AADACL3, AADACL4
+96 more
Copy number loss
See cases
GPathogenic
CCNL2, CDK11A
+188 more
Copy number loss
See cases
GPathogenic
AGTRAP, DISP3
+56 more
Copy number gain
See cases
GLikely pathogenic
ACAP3, ACOT7
+162 more
Copy number loss
See cases
GPathogenic
RER1, RERE
+212 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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